A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6541511



Internal ID20914792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43522177..43702875hg38UCSC Ensembl
chr22:43918057..44098755hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38180699
hg19180699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074394
Samples
Known GenesEFCAB6, EFCAB6-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6541511
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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